MCID: BLD053
MIFTS: 51

Blood Platelet Disease

Categories: Blood diseases, Bone diseases, Immune diseases

Aliases & Classifications for Blood Platelet Disease

MalaCards integrated aliases for Blood Platelet Disease:

Name: Blood Platelet Disease 12 15 70
Platelet Disorder 12 73 54 6
Blood Platelet Disorders 73 44 70
Platelet Dysfunction 54 70
Thrombocytopathy 12 73
Qualitative Platelet Deficiency 70
Platelet Disorders 42

Classifications:



External Ids:

Disease Ontology 12 DOID:2218
MeSH 44 D001791
NCIt 50 C131634
SNOMED-CT 67 22716005
UMLS 70 C0005818 C0235604 C0679429 more

Summaries for Blood Platelet Disease

MedlinePlus : 42 Platelets, also known as thrombocytes, are blood cells. They form in your bone marrow, a sponge-like tissue in your bones. Platelets play a major role in blood clotting. Normally, when one of your blood vessels is injured, you start to bleed. Your platelets will clot (clump together) to plug the hole in the blood vessel and stop the bleeding. You can have different problems with your platelets: If your blood has a low number of platelets, it is called thrombocytopenia. This can put you at risk for mild to serious bleeding. The bleeding could be external or internal. There can be various causes. If the problem is mild, you may not need treatment. For more serious cases, you may need medicines or blood or platelet transfusions. If your blood has too many platelets, you may have a higher risk of blood clots. When the cause is unknown, this is called thrombocythemia. It is rare. You may not need treatment if there are no signs or symptoms. In other cases, people who have it may need treatment with medicines or procedures. If another disease or condition is causing the high platelet count, it is thrombocytosis. The treatment and outlook for thrombocytosis depends on what is causing it. Another possible problem is that your platelets do not work as they should. For example, in von Willebrand Disease, your platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. There are different types of in von Willebrand Disease; treatment depends on which type you have. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Blood Platelet Disease, also known as platelet disorder, is related to bernard-soulier syndrome and factor v deficiency, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Blood Platelet Disease is RUNX1 (RUNX Family Transcription Factor 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and ECM-receptor interaction. The drugs Hemostatics and Vasopressins have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and bone, and related phenotypes are hematopoietic system and cardiovascular system

Disease Ontology : 12 A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.

Wikipedia : 73 Platelets, also called thrombocytes (from Greek θρόμβος, "clot" and κύτος, "cell"), are a component of... more...

Related Diseases for Blood Platelet Disease

Diseases related to Blood Platelet Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 406)
# Related Disease Score Top Affiliating Genes
1 bernard-soulier syndrome 32.9 VWF THPO SELP MYH9 ITGA2B GP9
2 factor v deficiency 32.6 VWF F8 F3 F10
3 myh-9 related disease 32.5 MYH9 GP9 GP1BB GP1BA ANKRD26
4 pseudo-von willebrand disease 32.4 VWF GP9 GP1BB GP1BA
5 bleeding disorder, platelet-type, 11 32.4 SELP ITGA2B GP1BA CD36
6 gray platelet syndrome 32.4 VWF SELP PF4 MYH9 ITGA2B GP9
7 thrombocytosis 32.4 VWF THPO SERPINC1 SELP PF4 F3
8 quebec platelet disorder 32.4 SELP MMRN1 F10
9 thrombocytopenia 32.3 VWF U2AF1 THPO SERPINC1 SELP RUNX1
10 myelodysplastic syndrome 31.0 U2AF1 THPO RUNX1 ITGA2B ANKRD26
11 thrombasthenia 30.9 SELP ITGA2B GP9 GP1BA F3 CD36
12 acquired von willebrand syndrome 30.9 VWF U2AF1 GP1BA F8 F3
13 von willebrand disease, type 1 30.8 VWF GP1BA F8
14 myeloproliferative neoplasm 30.8 VWF U2AF1 THPO RUNX1 PF4
15 purpura 30.8 VWF THPO SERPINC1 ITGA2B GP1BA F3
16 von willebrand's disease 30.8 VWF SELP PF4 ITGA2B GP9 GP1BA
17 thrombocytopenia due to platelet alloimmunization 30.8 THPO SELP PF4 ITGA2B GP9 GP5
18 polycythemia vera 30.8 VWF U2AF1 THPO SELP PF4
19 thrombotic thrombocytopenic purpura 30.8 VWF SERPINC1 SELP F3
20 angiodysplasia 30.7 VWF F8 F3
21 acute megakaryocytic leukemia 30.7 U2AF1 THPO RUNX1 PF4 ITGA2B GP1BA
22 compartment syndrome 30.7 SERPINC1 F8 F3
23 vascular disease 30.7 VWF SERPINC1 SELP PF4 ITGA2B GP1BA
24 afibrinogenemia, congenital 30.7 VWF SERPINC1 F8 F3 F10
25 thrombocytopenia-absent radius syndrome 30.6 THPO GP1BB ANKRD26
26 thrombosis 30.6 VWF SERPINC1 SELP PF4 ITGA2B GP1BA
27 hemorrhagic disease 30.6 VWF THPO SERPINC1 SELP RUNX1 PF4
28 glanzmann thrombasthenia 30.6 VWF SELP PF4 ITGA2B GP9 GP1BB
29 von willebrand disease, type 2 30.6 VWF GP1BA F8
30 heparin-induced thrombocytopenia 30.6 SERPINC1 PF4 F3 F10
31 factor xi deficiency 30.6 VWF SERPINC1 F8 F3 F10
32 factor viii deficiency 30.6 VWF SERPINC1 F8 F3 F10
33 hemophilia b 30.6 VWF SERPINC1 PF4 F8 F3 F10
34 endocarditis 30.6 SERPINC1 PF4 GP1BA
35 thrombophilia 30.6 VWF SERPINC1 SELP PF4 F8 F3
36 nonbacterial thrombotic endocarditis 30.6 SERPINC1 PF4 F3
37 hemophilia a 30.6 VWF F8 F3
38 autosomal dominant macrothrombocytopenia 30.5 MYH9 ITGA2B GP1BB GP1BA
39 factor xiii deficiency 30.5 VWF SERPINC1 F8 F3
40 pulmonary embolism 30.5 VWF SERPINC1 GP1BA F8 F3 F10
41 thrombophilia due to thrombin defect 30.5 VWF SERPINC1 PF4 F8 F3 F10
42 myelofibrosis 30.5 U2AF1 THPO SELP RUNX1
43 thrombocytopenic purpura, autoimmune 30.5 THPO SELP ITGA2B GP1BA F8
44 deficiency anemia 30.5 U2AF1 THPO SERPINC1 SELP GP1BA
45 essential thrombocythemia 30.5 VWF U2AF1 THPO SERPINC1 SELP PF4
46 fetal and neonatal alloimmune thrombocytopenia 30.5 ITGA2B GP1BB GP1BA
47 von willebrand disease, type 3 30.4 VWF GP1BA F8
48 disseminated intravascular coagulation 30.4 VWF SERPINC1 F3 F10
49 factor vii deficiency 30.4 SERPINC1 F8 F3 F10
50 peripheral vascular disease 30.4 VWF SERPINC1 SELP PF4 F3

Graphical network of the top 20 diseases related to Blood Platelet Disease:



Diseases related to Blood Platelet Disease

Symptoms & Phenotypes for Blood Platelet Disease

UMLS symptoms related to Blood Platelet Disease:


angina pectoris; chest pain; edema

MGI Mouse Phenotypes related to Blood Platelet Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.06 CD36 F2R F3 F8 GP1BA GP1BB
2 cardiovascular system MP:0005385 10 ANKRD26 CD36 F10 F2R F3 ITGA2B
3 homeostasis/metabolism MP:0005376 9.89 ANKRD26 CD36 F10 F2R F3 F8
4 immune system MP:0005387 9.47 CD36 F2R F3 F8 GP1BB GP9

Drugs & Therapeutics for Blood Platelet Disease

Drugs for Blood Platelet Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics Phase 4
2 Vasopressins Phase 4
3 Deamino Arginine Vasopressin Phase 4
4 Arginine Vasopressin Phase 4
5 Coagulants Phase 4
6 Factor VIII Phase 4
7
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
8
Empagliflozin Approved Phase 2, Phase 3 864070-44-0
9 Sodium-Glucose Transporter 2 Inhibitors Phase 2, Phase 3
10 Hypoglycemic Agents Phase 2, Phase 3
11
Ticagrelor Approved Phase 1, Phase 2 274693-27-5 9871419
12
Trimetazidine Approved, Investigational Phase 2 5011-34-7
13
Atorvastatin Approved Phase 2 134523-00-5 60823
14
Clopidogrel Approved Phase 1, Phase 2 113665-84-2, 120202-66-6 60606
15
Aspirin Approved, Vet_approved Phase 1, Phase 2 50-78-2 2244
16 Calcium, Dietary Phase 2
17 Janus Kinase Inhibitors Phase 1, Phase 2
18 Vasodilator Agents Phase 2
19 Anticholesteremic Agents Phase 2
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
21 Antimetabolites Phase 2
22 Rosuvastatin Calcium Phase 2 147098-20-2
23 Lipid Regulating Agents Phase 2
24 Hypolipidemic Agents Phase 2
25 Analgesics, Non-Narcotic Phase 1, Phase 2
26 Analgesics Phase 1, Phase 2
27 Antirheumatic Agents Phase 1, Phase 2
28 Cyclooxygenase Inhibitors Phase 1, Phase 2
29 Anti-Inflammatory Agents Phase 1, Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
31 Antipyretics Phase 1, Phase 2
32 Platelet Aggregation Inhibitors Phase 1, Phase 2
33 Purinergic P2Y Receptor Antagonists Phase 1, Phase 2
34 Neurotransmitter Agents Phase 1, Phase 2
35
Calcium Nutraceutical Phase 2 7440-70-2 271
36
Adenosine Approved, Investigational 58-61-7 60961
37
Tranexamic Acid Approved 1197-18-8 5526
38
Heparin Approved, Investigational 9005-49-6 772 9812414
39 Ginger Approved
40
Sodium citrate Approved, Investigational 68-04-2
41
Protein C Approved
42
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
43
Vitamin D3 Approved, Nutraceutical 67-97-0 5280795 6221
44
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
45
Polygeline Experimental 66455-30-9
46
arachidonic acid Experimental 506-32-1 444899
47 Cola
48 polysaccharide-K
49 Antibodies
50 Immunoglobulins

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 Effect of Desmopressin on Platelet Dysfunction Associated With Mild Hypothermia in Healthy Volunteers Unknown status NCT00902057 Phase 4 desmopressin;desmopressin;desmopressin;placebo
2 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex (Humate-P®) Using Individualized Dosing in Pediatric and Adult Surgical Subjects With Von Willebrand's Disease. Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
3 Does An Abnormal PFA 100 Predict Bleeding After Renal Biopsy? Terminated NCT00334204 Phase 4
4 A Two Part, Double-blind, Randomized, Placebo-controlled and Open-label Study to Investigate the Efficacy, Safety and Tolerability of Eltrombopag, a Thrombopoietin Receptor Agonist, in Pediatric Patients With Previously Treated Chronic Immune (Idiopathic) Thrombocytopenic Purpura (ITP). PETIT2: Eltrombopag in PEdiatric Patients With Thrombocytopenia From ITP Completed NCT01520909 Phase 3 Eltrombopag;Placebo
5 The Effect of Dapagliflozin on Platelet Function testinG Profiles in Diabetic PatiEnts: The EDGE Study. Recruiting NCT04400760 Phase 2, Phase 3 DAPA Tx
6 The Effect of empagliFlozin on Platelet Function profilEs in diabetiC patienTs - The EFFECT Study. Recruiting NCT04342819 Phase 2, Phase 3 SGLT2 inhibitor
7 An Exploratory Phase II Dose Escalation Study of Eltrombopag in MYH9 Related Disease Completed NCT01133860 Phase 2 eltrombopag
8 Eltrombopag for Inherited Thrombocytopenias Completed NCT02422394 Phase 2 Eltrombopag
9 Safety and Efficacy of Eltrombopag at Escalated Doses up to 150mg in Patients With Persistent and Chronic Immune Thrombocytopenia (ITP) Not Responsive to 75 mg Completed NCT01880047 Phase 2 Eltrombopag;Placebo
10 Dose-Ranging Pharmacodynamic Assessment of Platelet Aggregation Inhibition With Clopidogrel in Children of Blalock-Taussig Shunt Age Categories (Neonates and Infants/Toddlers) Completed NCT00115375 Phase 2 Clopidogrel (SR25990)
11 A Phase Ib/II, Open-label, Multi-center, Dose-finding Study to Assess the Safety and Efficacy of the Oral Combination of LDE225 and INC424 (Ruxolitinib) in Patients With Myelofibrosis Completed NCT01787552 Phase 1, Phase 2 LDE225;INC424
12 Trimetazidine as an Adjunct to Enhance Clopidogrel Response: The TRACER Study. Completed NCT03603249 Phase 2 Trimetazidine
13 Prospective, Randomized, Single Center, Open Label Study Designed to Evaluate the Effect on Platelet Reactivity in Response to High Doses of Atorvastatin or Rosuvastatin Administered Before Percutaneous Coronary Intervention (PCI) Completed NCT01526460 Phase 2 Atorvastatin;Rosuvastatin;Placebo
14 The Effects of loW Dose tIcagrelor on Platelet Function Testing in Patients With Stable Coronary arTery Disease: TWIST Trial Completed NCT04206176 Phase 1, Phase 2 Ticagrelor
15 A Phase II Trial of Avatrombopag for the Treatment of Thrombocytopenia After Allogeneic Hematopoietic Stem Cell Transplant Recruiting NCT04312789 Phase 2 Avatrombopag
16 Reversal of Dual Antiplatelet Therapy With Cold Stored Platelets Active, not recruiting NCT03787927 Phase 1, Phase 2 Autologous Platelet Transfusion (room-temperature-stored);Autologous Platelet Transfusion (cold-stored 5 days);Autologous Platelet Transfusion (cold-stored 10 days);Autologous Platelet Transfusion (cold-stored 15 days);Aspirin;Clopidogrel
17 Post-operative Administration of Platelet Rich Plasma Sequestered Prior to Cardiopulmonary Bypass Reduces the Coagulopathy Associated With Complex Cardiac Surgery Terminated NCT00359398 Phase 2
18 The Impact of Various Storage Techniques on Platelet Function Withdrawn NCT03338660 Phase 2
19 Prospective Study on Hemostasis Alterations in Patients Undergoing Neuro Surgical Glioma Resection Acronym: (ABCD Study: Acute Brain Coagulopathy Development Study) Unknown status NCT02652897
20 Prevalence of Platelet Dysfunction Inblood With a Bleeding History Unknown status NCT03599219
21 Evaluation of Platelet Surface Glycoproteins in Patients With Inherited Thrombocytopathy: Association With Aggregation Studies and Bleeding Severity Unknown status NCT03648190
22 A 1.5 Years Prospective Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients Unknown status NCT01344096
23 Relationship Between Level of Glycosylated Hemoglobin and Platelet Function in Patients Undergoing Coronary Artery Bypass Grafting Unknown status NCT02711124
24 Cohort Study Examining the Effects of Short Daily Hemodialysis As Compared to Conventional Hemodialysis in Outpatients Treated at St Joseph's Healthcare, Hamilton Unknown status NCT00182156
25 Comparison of the Effects of Gelatine (Gelofusine ® B. Braun) Versus Crystalloid Solution (Ringerfundin ® B. Braun) for Volume Therapy on Coagulation, Thrombocyte Function and Thrombelastometry (ROTEM ®), in Elective Hip Replacement Surgery Unknown status NCT02461329 Gelofusine® B. Braun;Ringerfundin ® B. Braun
26 Influence of Extracorporeal Circulation on Platelet Function of Patients Undergoing Cardiac Surgery - a Prospective Observational Study Completed NCT01354847
27 Clinical Performance Evaluation of T-TAS 01 PL Chip Completed NCT03621020
28 Effect of Aspirin, in Vitro Hemodilution and Desmopressin on Platelet Dysfunction Associated With Mild Hypothermia in Healthy Volunteers Completed NCT01382134 Aspirin, desmopressin;Placebo, desmopressin
29 AggreGuide 325 mg. Aspirin Study for Aspirin Induced Platelet Dysfunction Completed NCT01915407
30 The Effect of Vitamin D Supplementation on HIV-associated Platelet Hyperreactivity Completed NCT02217553 Cholecalciferol
31 Ex-Vivo Reversion of Platelet Inhibition Induced by Prasugrel Completed NCT01839968
32 Platelet Function in Minimal Extracorporeal Circulation Versus Conventional Extracorporeal Circulation in Coronary Artery Bypass Grafting Completed NCT01935245
33 Pivotal Study of the AggreGuide A-100 Adenosine Diphosphate (ADP) Assay to Evaluate the Detection of Platelet Dysfunction Due to P2Y12 Antiplatelet Drugs Completed NCT03111420 P2Y12 inhibitor
34 Treatment and Management of Women With Bleeding Disorders Completed NCT00111215 Tranexamic Acid;Desmopressin Acetate
35 Influence of Cardiopulmonary Bypass on Platelet Function in Patients With Preoperative Dual Antiplatelet Therapy: Completed NCT02979158
36 Effects of Exercise Training on Cardiovascular Health in Middle-aged Women Completed NCT02135575
37 Platelet Function and genoType-Related Long-term progGosis in CAD Patients Treated With DES: A Retrospective Multi-centered Registry (PTRG-DES Registry) Completed NCT04734028 Clopidogrel Tablets
38 PLATelet Function Operating Room Monitoring Completed NCT03121898
39 Documentation of the Efficacy of Desmopressin (MINIRIN Parenteral 4 Microgram/ml Solution for Injection) Within the Context of Surgical Procedures Completed NCT02368730 desmopressin
40 The Influence of Drugs Routinely Used in Cardiac Anesthesia on Impedance Aggregometry. Completed NCT01454427
41 Prevalence of clOpidogrel "resIstaNce" in a Selected Population of Patients Undergoing Elective Percutaneous Coronary Intervention at a Tertiary Cardiovascular Center in Trinidad: The POINT Pilot Study Completed NCT03667066 Clopidogrel
42 Genotypic and Phenotypic Correlates of Resistance to Anti-platelet Actions of Aspirin in an At-risk Patient Population and in the General Population Completed NCT01361620 aspirin
43 Multicentre Evaluation of a New Laboratory Approach for the Diagnosis of Constitutional Functional Disorders of Platelets Completed NCT01957345
44 Effect of Remote Ischemic Preconditioning on Platelet Activation During Cardiac Surgery With Cardiopulmonary Bypass Completed NCT03458351
45 The Effect of Daily Ginger Drinking on Platelet's Function in the Saudi Population Completed NCT02882776
46 Platelet Dysfunction in Patients Treated With SSRI Versus Non-SSRI Antidepressants Completed NCT00009568
47 Effect of Remote Ischemic Conditioning on Platelet Dysfunction Following Off-pump Coronary Artery Bypass Surgery Completed NCT03125681
48 "In-vitro Characterization of Platelet Dysfunction in Common Hematological Disorders Using the Verify Now Assay" Completed NCT01167218
49 Correction of Platelet Dysfunction Following Traumatic Brain Injury in Geriatric Patients Recruiting NCT03182946
50 The Effect of Cocoa on Platelet Function Profiles in Patients With Stable Coronary Artery Disease in Trinidad and Tobago: The ECLAIR Study Recruiting NCT04554901

Search NIH Clinical Center for Blood Platelet Disease

Cochrane evidence based reviews: blood platelet disorders

Genetic Tests for Blood Platelet Disease

Anatomical Context for Blood Platelet Disease

MalaCards organs/tissues related to Blood Platelet Disease:

40
Bone Marrow, Myeloid, Bone, Whole Blood, Endothelial, Spleen, Heart

Publications for Blood Platelet Disease

Articles related to Blood Platelet Disease:

(show top 50) (show all 460)
# Title Authors PMID Year
1
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
2
Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects. 6
25798958 2015
3
Free fatty acid uptake in humans with CD36 deficiency. 6
24917573 2014
4
Variants of CD36 gene and their association with CD36 protein expression in platelets. 6
24960640 2014
5
A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians. 6
15282206 2004
6
Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency. 6
11950861 2002
7
Association of the Pro90Ser CD36 mutation with elevated free fatty acid concentrations but not with insulin resistance syndrome in Japanese. 6
11718687 2001
8
Phenotype-genotype correlation in CD36 deficiency types I and II. 6
11019968 2000
9
Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol. 6
10946357 2000
10
Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency. 6
7533783 1995
11
Thrombocytopathy and endotheliopathy: crucial contributors to COVID-19 thromboinflammation. 42
33214651 2021
12
Regulation of Platelet Production and Life Span: Role of Bcl-xL and Potential Implications for Human Platelet Diseases. 42
33066573 2020
13
Prognostic impact of pretreatment thrombocytosis in epithelial ovarian cancer. 42
32788493 2020
14
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. 54 61
19946261 2010
15
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 54 61
19357396 2009
16
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 61 54
18723428 2008
17
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. 54 61
18478040 2008
18
Familial myelodysplasia and acute myeloid leukaemia--a review. 61 54
18173751 2008
19
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies. 54 61
18166807 2008
20
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 54 61
17290219 2007
21
Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report. 54 61
16651876 2006
22
AML1 deletion in adult mice causes splenomegaly and lymphomas. 61 54
16247465 2006
23
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. 54 61
16044442 2005
24
Structure and function of snake venom toxins interacting with human von Willebrand factor. 61 54
15922776 2005
25
Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. 54 61
15741216 2005
26
Targeting platelet GPIbalpha transgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbbeta and GPIX. 54 61
15550031 2004
27
Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia. 61 54
15339695 2004
28
Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia. 54 61
15156185 2004
29
AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis. 61 54
14966519 2004
30
Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2. 61 54
14594802 2004
31
AML1/RUNX1 mutations are infrequent, but related to AML-M0, acquired trisomy 21, and leukemic transformation in pediatric hematologic malignancies. 54 61
12874780 2003
32
The role of a Runt domain transcription factor AML1/RUNX1 in leukemogenesis and its clinical implications. 54 61
12604126 2003
33
Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. 54 61
12393679 2003
34
Core binding factor genes and human leukemia. 61 54
12495904 2002
35
Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder. 54 61
11754414 2001
36
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. 61 54
11675361 2001
37
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. 61 54
9116284 1997
38
PMA induces platelet activation of specific antigens (CD62/CD63) in GpIIb-IIIa deficient platelets from Glanzmann's thrombasthenia. 54 61
16793673 1997
39
An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect. 61 54
8652809 1996
40
Down syndrome and leukemia, an update. 54 61
8545449 1995
41
Human platelet glycoprotein V: a surface leucine-rich glycoprotein related to adhesion. 61 54
2372284 1990
42
Neonatal Alloimmune Thrombocytopenia: A Concise Review. 61
32657948 2021
43
The May-Hegglin anomaly: a rare cause of a common complaint. 61
33649034 2021
44
Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies. 61
33692461 2021
45
RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies 61
33661592 2021
46
A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder. 61
33616470 2021
47
RUNX1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells. 61
33569577 2021
48
Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation. 61
33560381 2021
49
Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin. 61
32990483 2021
50
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. 61
33147934 2021

Variations for Blood Platelet Disease

ClinVar genetic disease variations for Blood Platelet Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANKRD26 NM_014915.2(ANKRD26):c.-126T>C SNV Pathogenic 626941 rs1589393792 GRCh37: 10:27389381-27389381
GRCh38: 10:27100452-27100452
2 RUNX1 NM_001754.4(RUNX1):c.497G>A (p.Arg166Gln) SNV Pathogenic 417961 rs1060499616 GRCh37: 21:36252865-36252865
GRCh38: 21:34880568-34880568
3 CD36 NM_001001547.3(CD36):c.268C>T (p.Pro90Ser) SNV Pathogenic 13535 rs75326924 GRCh37: 7:80286003-80286003
GRCh38: 7:80656687-80656687

Copy number variations for Blood Platelet Disease from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 45936 10 75328946 75329067 Duplication PLAU Platelet disorder

Expression for Blood Platelet Disease

Search GEO for disease gene expression data for Blood Platelet Disease.

Pathways for Blood Platelet Disease

Pathways related to Blood Platelet Disease according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 VWF THPO SERPINC1 SELP PF4 MMRN1
2
Show member pathways
12.19 VWF ITGA2B GP9 GP5 GP1BB GP1BA
3 12.12 VWF SERPINC1 F8 F3 F2R F10
4 12.07 VWF ITGA2B GP9 GP5 GP1BB GP1BA
5 11.96 THPO ITGA2B GP5 GP1BA CD36
6 11.94 THPO ITGA2B GP9 GP5 GP1BB GP1BA
7
Show member pathways
11.9 VWF THPO ITGA2B GP9 GP5 GP1BB
8
Show member pathways
11.9 VWF SERPINC1 PF4 GP9 GP5 GP1BB
9 11.41 VWF ITGA2B GP9 GP5 GP1BB F2R
10 11.37 RUNX1 ITGA2B GP9
11 10.83 VWF GP9 GP5 GP1BB GP1BA
12 10.65 VWF GP9 GP5 GP1BB GP1BA

GO Terms for Blood Platelet Disease

Cellular components related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 SERPINC1 SELP MYH9 ITGA2B GP9 GP5
2 extracellular region GO:0005576 10.06 VWF THPO SERPINC1 PF4 MMRN1 F8
3 integral component of plasma membrane GO:0005887 9.98 SELP GP9 GP5 GP1BB GP1BA F2R
4 cell surface GO:0009986 9.85 ITGA2B GP1BA F3 F2R CD36
5 extracellular space GO:0005615 9.85 VWF THPO SERPINC1 SELP PF4 GP1BA
6 collagen-containing extracellular matrix GO:0062023 9.72 VWF SERPINC1 PF4 MMRN1 F3
7 intrinsic component of external side of plasma membrane GO:0031233 9.26 F3 F10
8 platelet alpha granule membrane GO:0031092 9.13 SELP ITGA2B CD36
9 platelet alpha granule lumen GO:0031093 8.92 VWF PF4 MMRN1 F8

Biological processes related to Blood Platelet Disease according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.07 VWF SELP MYH9 MMRN1 ITGA2B GP9
2 platelet degranulation GO:0002576 9.87 VWF SELP PF4 MMRN1 ITGA2B F8
3 platelet activation GO:0030168 9.86 VWF PF4 GP9 GP5 GP1BB GP1BA
4 regulation of megakaryocyte differentiation GO:0045652 9.73 RUNX1 PF4 ITGA2B GP1BA
5 positive regulation of MAPK cascade GO:0043410 9.72 THPO F2R CD36
6 platelet aggregation GO:0070527 9.65 MYH9 ITGA2B GP1BA
7 hemostasis GO:0007599 9.65 VWF SERPINC1 GP9 GP5 GP1BB GP1BA
8 blood coagulation, intrinsic pathway GO:0007597 9.63 VWF GP9 GP5 GP1BB GP1BA F8
9 regulation of blood coagulation GO:0030193 9.58 SERPINC1 GP1BA F2R
10 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.54 PF4 CD36
11 positive regulation of blood coagulation GO:0030194 9.52 F2R CD36
12 positive regulation of leukocyte migration GO:0002687 9.51 SELP ITGA2B
13 thrombin-activated receptor signaling pathway GO:0070493 9.49 GP1BA F2R
14 blood coagulation, extrinsic pathway GO:0007598 9.46 F3 F10
15 blood coagulation GO:0007596 9.4 VWF SERPINC1 MMRN1 GP9 GP5 GP1BB

Molecular functions related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 VWF U2AF1 SERPINC1 SELP RUNX1 PF4
2 protease binding GO:0002020 9.33 VWF SERPINC1 F3
3 thrombin-activated receptor activity GO:0015057 8.62 GP1BA F2R

Sources for Blood Platelet Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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